Frequency of the IGF A/G rs7136446 polymorphism and athletic performance

Previous studies have shown that carrying the minor T allele of the IGF C-1245T polymorphism was associated with higher circulating IGF-I levels, greater muscle mass and improved power athletic performance. The aim of the present study was to assess the frequency distribution of another IGF-I single nucleotide polymorphism (SNP), the A/G rs7136446, among Israeli athletes. The IGF A/G rs7136446 polymorphism was determined in 185 short (n=72) and long-distance (n=113) runners, 94 short (n=44) and long-distance (n=50) swimmers, 54 weight-lifters and 111 controls. There were no significant differences in GG carriers, previously described as associated with higher maximal force production, between the athletes and controls. The only statistical significant difference in GG carriers was found between the sprinters (24%) and weight-lifters (9%; p<0.05). Although a single polymorphism cannot determine an athlete’s ability to succeed or fail in sports, the present findings suggest a potential importance of IGF-I polymorphisms mainly to power sports and in particular to speed sport performance.

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Prevalence of ACSL (rs6552828) polymorphism among runners

Acta Kinesiologiae Universitatis Tartuensis ◽

10.12697/akut.2018.24.09 ◽

2019 ◽

Vol 24 ◽

pp. 121-128

Author(s):

Sigal Ben-Zaken ◽

Yoav Meckel ◽

Dan Nemet ◽

Alon Eliakim

Keyword(s):

Single Nucleotide Polymorphism ◽

Genetic Basis ◽

Maximal Oxygen Consumption ◽

Professional Athletes ◽

Distance Runners ◽

Nucleotide Polymorphism ◽

Long Distance ◽

Single Nucleotide ◽

The Common

The ACSL A/G polymorphism is associated with endurance trainability. Previous studies have demonstrated that homozygotes of the minor AA allele had a reduced maximal oxygen consumption response to training compared to the common GG allele homozygotes, and that the ACSL A/G single nucleotide polymorphism explained 6.1% of the variance in the VO2max response to endurance training. The contribution of ACSL single nucleotide polymorphism to endurance trainability was shown in nonathletes, however, its potential role in professional athletes is not clear. Moreover, the genetic basis to anaerobic trainability is even less studied. Therefore, the aim of the present study was to examine the prevalence of ACSL single nucleotide polymorphism among professional Israeli long distance runners (n=59), middle distance runners (n=31), sprinters and jumpers (n=48) and non-athletic controls (n=60). The main finding of the present study was that the ACSL1 AA genotype, previously shown to be associated with reduced endurance trainability, was not higher among sprinters and jumpers (15%) compared to middle- (16%) and long-distance runners (15%). This suggests that in contrast to previous studies indicating that the ACSL1 single nucleotide polymorphism may influence endurance trainability among non-athletic individuals, the role of this polymorphism among professional athletes is still not clear.

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Single-nucleotide Polymorphism in the CD14 Promoter and Periodontal Disease Expression in a Japanese Population

Journal of Dental Research ◽

10.1177/154405910308200808 ◽

2003 ◽

Vol 82 (8) ◽

pp. 612-616 ◽

Cited By ~ 32

Author(s):

K. Yamazaki ◽

K. Ueki-Maruyama ◽

T. Oda ◽

K. Tabeta ◽

Y. Shimada ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Periodontal Disease ◽

Japanese Population ◽

Young Patients ◽

Genotype Distribution ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Control Subjects ◽

Significant Difference ◽

And Gender

It has been reported that there is a relationship between a single-nucleotide polymorphism (SNP) in the promoter region of the CD14 gene at position -159 (C→T) and infectious diseases. The aim of the present study was to test the hypthesis that expression of this SNP correlates with periodontal disease in a Japanese population. The CD14 genotype was determined in 163 subjects with periodontitis and in 104 age- and gender-matched control subjects without periodontitis. The genotype distribution and allele frequency within the periodontitis patients were not significantly different from those of control subjects. There was, however, a significant difference in the genotype distribution between young patients (< 35 yrs) and older patients (≥ 35 yrs). These findings suggest that CD14 -159C/T polymorphism is not related to the development of periodontitis in a Japanese population, but that, within the periodontitis subjects, expression of the SNP may be related to early disease activity.

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BTNL2 gene polymorphism and sarcoid uveitis

British Journal of Ophthalmology ◽

10.1136/bjophthalmol-2018-312949 ◽

2019 ◽

pp. bjophthalmol-2018-312949 ◽

Cited By ~ 3

Author(s):

Mayeul Chaperon ◽

Yves Pacheco ◽

Delphine Maucort-Boulch ◽

Jean Iwaz ◽

Laurent Perard ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Gene Polymorphism ◽

Nucleotide Polymorphism ◽

Predisposing Factor ◽

Single Nucleotide ◽

Genotype Frequencies ◽

Subgroup Ii ◽

Significant Difference ◽

Caucasian Women ◽

Patient Subgroups

BackgroundUveitis is a frequent and early feature of sarcoidosis. As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups.MethodsThe study compared the genotype frequencies of SNP G16071A of 135 patients with sarcoid uveitis (Sa+Uv+) with those of 196 patients with sarcoidosis without uveitis (Sa+Uv−), 81 patients with uveitis without sarcoidosis (Sa−Uv+), and 271 controls with no sarcoidosis nor uveitis (Sa−Uv−). Three hypothetical subgroups of patients with sarcoid uveitis (Sa+Uv+ cases) were considered: (1) subgroup I: patients aged <45 years of both sexes and all ethnic origins; (2) subgroup II: Caucasian women aged >45 years; and (3) subgroup III: all other patients.ResultsA statistically significant difference in genotype frequencies was found between the groups Sa+Uv− and Sa−Uv− (p=3.2×10−6) and between the groups Sa+Uv+ and Sa+Uv− (p=7.1×10−3). There was no difference between the three subgroups of Sa+Uv+ patients. There was a statistically significant difference in genotype frequencies between Sa+Uv− and Sa+Uv+ subgroup II (p=0.005) but no difference between Sa+Uv− and Sa+Uv+ subgroup I.ConclusionNo association was found between G16071A and the susceptibility to sarcoid uveitis. BTNL2 gene G16071A SNP seems to be a predisposing factor for sarcoidosis except in Caucasian postmenopausal women with sarcoid uveitis in whom the GG genotype prevails. These and future results will help in understanding differences between particular subgroups of patients with sarcoid uveitis.

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One Year Follow-Up of Mindful Sport Performance Enhancement (MSPE) With Archers, Golfers, and Runners

Journal of Clinical Sport Psychology ◽

10.1123/jcsp.5.2.99 ◽

2011 ◽

Vol 5 (2) ◽

pp. 99-116 ◽

Cited By ~ 62

Author(s):

Rachel W. Thompson ◽

Keith A. Kaufman ◽

Lilian A. De Petrillo ◽

Carol R. Glass ◽

Diane B. Arnkoff

Keyword(s):

Athletic Performance ◽

Performance Enhancement ◽

Sport Performance ◽

Trait Mindfulness ◽

Distance Runners ◽

Long Distance ◽

Ability To Act ◽

One Year

The purpose of the present investigation was to evaluate the long-term effects of mindful sport performance enhancement (MSPE), a program designed to improve athletic performance and psychological aspects of sport. One-year follow-up assessments were conducted on archers, golfers, and long-distance runners (N = 25) who attended Kaufman, Glass, and Arnkoff’s (2009) and De Petrillo, Kaufman, Glass, and Arnkoff’s (2009) MSPE workshops. Across the athlete groups, participants reported significant increases in the ability to act with awareness (an aspect of trait mindfulness) and overall trait mindfulness from pretest to follow-up, along with significant decreases in task-related worries and task-irrelevant thoughts (both aspects of cognitive interference during sport). The long-distance runners exhibited significant improvement in their mile times from pretest to follow-up, with significant correlations between change in runners’ performance and trait variables. Results suggest that MSPE is a promising intervention associated with long-term changes in trait variables that may contribute to optimal athletic performance.

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ACTN3 polymorphism prevalence in general population of six Balkan countries

Genetika ◽

10.2298/gensr1703959k ◽

2017 ◽

Vol 49 (3) ◽

pp. 959-968

Author(s):

Hacer Konakli ◽

Zafer Konakli ◽

Senol Dogan ◽

Damir Marjanovic ◽

Serkan Dogan

Keyword(s):

Single Nucleotide Polymorphism ◽

General Population ◽

Elite Athletes ◽

Rflp Analysis ◽

Population Data ◽

Sport Performance ◽

Nucleotide Polymorphism ◽

Salting Out ◽

Single Nucleotide ◽

Balkan Countries

The aim of this study was to investigate the prevalence of RR, RX and XX genotypes of rs1815739 single nucleotide polymorphism of ACTN3 gene in general population of six Balkan countries. This SNP is currently thought to give genetic predisposition for advantageous sport performance, with its R allele positively correlating with better performance in strength/power sports, and X allele being present in higher frequency in elite athletes in endurance disciplines. A total of 483 individuals (281 males and 202 females) from seven populations from six countries was tested. Samples were collected by buccal swabbing method, DNA was isolated according to salting-out protocol and genotyping was performed using PCR and RFLP analysis. Obtained results suggest that RR and RX genotypes (43.7% and 44.1%, respectively) are overrepresented when compared to XX genotype (12.2%). The XX genotype in the study samples is present in lower frequency when compared to the global (16-18%) and European (18%) average. This study reports the first population data on genotype prevalence in sports-related genes for this part of Europe and is the beginning of research interests that intend to investigate genetic predispositions of elite athletes from this region competing internationally in different disciplines.

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Bovine cardiac troponin I gene (<i>TNNI3</i>) as a candidate gene for bovine dilated cardiomyopathy

Archives Animal Breeding ◽

10.5194/aab-52-113-2009 ◽

2009 ◽

Vol 52 (2) ◽

pp. 113-123

Author(s):

M. Owczarek-Lipska ◽

G. Dolf ◽

K. E. Guziewicz ◽

T. Leeb ◽

C. Schelling ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Dilated Cardiomyopathy ◽

Candidate Gene ◽

Expression Analysis ◽

Cardiac Troponin ◽

Troponin I ◽

Troponin T ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Significant Difference

Abstract. The cardiac troponin complex, which is an important component of the contractile apparatus, is composed of the three subunits troponin I (TnI), troponin C (TnC) and troponin T (TnT). Troponin I is the inhibitory subunit and consists of three isoforms encoded by TNNI1, TNNI2 and TNNI3 genes, respectively. Due to the different types of cardiomyopathies caused by mutations in the TNNI3 gene and its fluorescence in situ hybridization (FISH) mapping on bovine chromosome 18q26, which was shown to be linked to the recessively inherited bovine dilated cardiomyopathy (BDCMP), bovine TNNI3 was considered as candidate gene for BDCMP. Real-time polymerase chain reaction (PCR) TNNI3 expression analysis resulted in a significant difference between BDCMP affected and unaffected animals when normalized to ACTB gene expression, but there was no significant difference in expression when normalized to GAPDH. Northen blotting experiment was in agreement with the expression analysis and did not reveal a significant difference between the group of BDCMP affected and unaffected animals. Sequencing of the bovine TNNI3 gene revealed a single nucleotide polymorphism in intron 6 (c.378+315G>A), but this single nucleotide polymorphism (SNP)was present regardless of the BDCMP status. In summary our data provide evidence to exclude the bovine TNNI3 gene as a candidate for BDCMP.

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Monocyte Chemoattractant Protein-1−2518 A/G Single Nucleotide Polymorphism Might Be Associated with Renal Disease and Thrombocytopenia of SLE

Journal of Biomedicine and Biotechnology ◽

10.1155/2010/130265 ◽

2010 ◽

Vol 2010 ◽

pp. 1-6 ◽

Cited By ~ 13

Author(s):

Piotr Piotrowski ◽

Margarita Lianeri ◽

Robert Gasik ◽

Andrzej Roszak ◽

Marzena Olesińska ◽

...

Keyword(s):

Clinical Manifestations ◽

Clinical Findings ◽

Healthy Individuals ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Monocyte Chemoattractant Protein 1 ◽

Monocyte Chemoattractant ◽

Conflicting Evidence ◽

Significant Difference ◽

Polymorphic Variants

There is conflicting evidence on the contribution of the MCP-1 −2518 A>G (rs 1024611) polymorphism to SLE incidence and clinical manifestations. We examined the prevalence of the MCP-1 −2518 A>G polymorphism in SLE patients (n=199) and controls (n=250) in Poland. We did not observe a significant difference in the distribution of MCP-1 −2518 A>G polymorphic variants in patients with SLE and healthy individuals. However, we found an association between the GG versus AG and AA genotypes as well as the AG and GG versus AA genotypes with renal manifestations of SLEOR=3.614(1.123–11.631,P=0.0345) andOR=2.297(1.301–4.057,P=0.0046), respectively. We also observed that the MCP-1 AG and GG -genotypes contribute to the occurrence of thrombocytopenia in SLE patientsOR=2.618(1.280–5.352,P=0.0089). Our observations indicate that either MCP-1 −2518 G variant can be associated with some clinical findings in patients with SLE.

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Common Polymorphism G(-248)A in the Promoter Region of the bax Gene Results in Significantly Shorter Survival in Patients With Chronic Lymphocytic Leukemia Once Treatment Is Initiated

Journal of Clinical Oncology ◽

10.1200/jco.2005.02.192 ◽

2005 ◽

Vol 23 (7) ◽

pp. 1514-1521 ◽

Cited By ~ 50

Author(s):

Jane Starczynski ◽

Chris Pepper ◽

Guy Pratt ◽

Laura Hooper ◽

Alun Thomas ◽

...

Keyword(s):

Overall Survival ◽

Single Nucleotide Polymorphism ◽

Chronic Lymphocytic Leukemia ◽

Promoter Region ◽

Lymphocytic Leukemia ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Bax Protein ◽

Significant Difference ◽

Bax Gene

Purpose Chronic lymphocytic leukemia (CLL) is characterized by the development of drug resistance. The underlying biologic and genetic reasons for this resistance are complex, but the bcl-2 gene family seems to play a critical role. This retrospective study assessed the clinical impact of a common single nucleotide polymorphism of the pro-apoptotic bax gene in patients with chronic lymphocytic leukemia. Patients and Methods The frequency of the novel polymorphism, G(−248)A, in the promoter region of the bax gene and bax protein expression was assessed in 203 CLL patients. The results were correlated with clinical outcome. Results The polymorphism was found in 23% of the CLL cohort and 15% of normal controls with no significant difference in allele frequency between the two groups (P = .15). It was associated with lower Bax protein expression and a shorter overall survival, especially in the treated patient group (P = .03). Furthermore, the adverse impact of the polymorphism was accentuated when comparing survival from the date of first treatment rather than diagnosis (P = .012). No significant difference in age at diagnosis, stage of disease at presentation, lymphocyte doubling time, time to first treatment, or progression-free survival were observed. Conclusion The presence of this single nucleotide polymorphism in CLL critically influences the response to treatment and overall survival. Given the relatively high prevalence of this polymorphism in the normal population, further prospective studies in CLL and other human malignancies are indicated.

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Impact of TSPO Receptor Polymorphism on [18F]GE-180 Binding in Healthy Brain and Pseudo-Reference Regions of Neurooncological and Neurodegenerative Disorders

10.20944/preprints202104.0548.v1 ◽

2021 ◽

Author(s):

Franziska J. Vettermann ◽

Stefanie Harris ◽

Julia Schmitt ◽

Marcus Unterrainer ◽

Simon Lindner ◽

...

Keyword(s):

Region Of Interest ◽

Cerebellar Hemisphere ◽

Nucleotide Polymorphism ◽

Reference Tissue ◽

Single Nucleotide ◽

Prior Therapy ◽

Standardized Uptake Values ◽

Significant Difference ◽

The Impact

TSPO-PET tracers are sensitive to a single-nucleotide-polymorphism (rs6971-SNP) resulting in low (LAB), medium (MAB) and high (HAB) affinity binders, but the clinical relevance for [18F]GE-180 is still unclear. We evaluate the impact of rs6971-SNP on in vivo [18F]GE-180 binding in healthy brain and in pseudo-reference tissue in neurooncological and neurodegenerative diseases. Standardized uptake values (SUV) of [18F]GE-180-PET were assessed using a manually drawn region of interest in the fronto-parietal and cerebellar hemisphere. SUVs were compared between LAB, MAB and HAB in controls, glioma, 4-repeat tauopathies (4RT) and Alzheimer’s disease (AD) subjects. Second, SUVs were compared between patients and controls within their rs6971-subgroup. After exclusion of patients with prior therapy, n=24 LABs (n=7 controls, n=5 glioma, n=6 4RT, n=6 AD) were analysed. Age- and sex-matched MABs (n=38) and HABs (n=50) were selected. LABs had lower fronto-parietal and cerebellar SUVs when compared to MABs and HABs, but no significant difference was observed between MABs and HABs. Within each rs6971 group no SUV difference between patients and controls was detected in the pseudo-reference tissues. The rs6971-SNP affects [18F]GE-180 quantification, revealing lower binding in LABs when compared to MABs/HABs. Fronto-parietal and cerebellar ROIs were successfully validated as pseudo-reference regions.

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The role of single-nucleotide polymorphism rs10824026 of the SYNPO2L gene in the development of atrial fibrillation in a study in the East-Siberian population

Cardiosomatics ◽

10.26442/22217185.2019.4.190722 ◽

2019 ◽

Vol 10 (4) ◽

pp. 34-38

Author(s):

Kseniia Yu. Shishkova ◽

Svetlana Yu. Nikulina ◽

Vladimir A. Shulman ◽

Anna A. Chernova ◽

Vladimir N. Maksimov ◽

...

Keyword(s):

Atrial Fibrillation ◽

Single Nucleotide Polymorphism ◽

National Standard ◽

World Health ◽

Control Group ◽

Genome Wide Association Studies ◽

Siberian Population ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Significant Difference

Background. Atrial fibrillation (AF) is the most common type of heart rhythm disturbance, leading to the development of lifethreatening conditions, such as cardio embolism, heart failure, and even sudden cardiac death. In recent years, the genetic aspects of AF have been actively discussed. The largest number of genetic predictors of AF was identified after a full genome-wide association studies (GWAS). Given that so far no studies of the association of rs10824026 polymorphism of chromosome 10q22 with the development of AF have been conducted in the Russian population, we conducted this clinical study. Aim. Checking the associations of the development of AF with the single-nucleotide polymorphism rs10824026 of the SYNPO2L gene in the East-Siberian population. Materials and methods. The study design was formed in accordance with the National Standard of the Russian Federation Good Clinical Practice, GOST P 52379-2005. The study uses design - “case-control”. The main group of patients - patients with known cardiac arrhythmias by the type of AF (n=106, average age 57.0±9 years, men 49.4%, women 50.6%), the group was formed using the criteria of the World Health Organization and the European Society of cardiologists. The control group (n=105, average age 57.0±9 years, men - 50.0%, women - 50.0%) was selected by age and gender from the DNA bank of international studies MONICA (Multinational MONItoring of trends and determinants in cardiovascular disease) under a joint agreement with the Research Institute of Therapy and preventive medicine - Novosibirsk. DNA was isolated by phenol-chloroform extraction. Among other things, among the research methods, routine laboratory methods were used; instrumental data; and invasive tactics such as CAG. Results. As a result of clinical genetic testing, it was found that the frequency of G/G polymorphism of the SYNPO2L gene in patients with AF shows a statistically significant difference.

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